Telomere biology disorders (TBDs) are characterized by short telomeres, premature aging, bone marrow failure and cancer predisposition. Germline mutations in NHP2, encoding for one component of the telomerase cofactor H/ACA RNA binding complex together with Dyskerin, NOP10 and GAR1, have been previously reported in rare cases of TBDs. Here, we report two novel NHP2 variants (NHP2-A39T and NHP2-T44

Europeiska unionens (EU) strategi Från jord till bord (EU-kommissionen, 2020) ämnar skapa ett rättvisare, hälsosammare och miljövänligare livsmedelssystem. En av många åtgärder som lyfts fram i strategin för att uppnå målen är att främja en hållbar livsmedelskonsumtion genom att göra det lättare för konsumenter att välja hälsosamma och hållbara livsmedel. EU-kommissionen vill därför skapa ett ramv

BACKGROUND. Severe, early-onset fetal growth restriction (FGR) causes significant fetal and neonatal mortality and morbidity. Predicting the outcome of affected pregnancies at the time of diagnosis is difficult, thus preventing accurate patient counseling. We investigated the use of maternal serum protein and ultrasound measurements at diagnosis to predict fetal or neonatal death and 3 secondary o

I denna Fokus undersöker vi den svenska livsmedelskedjans konkurrenskraft och analyserar hur Sverige skulle kunna öka livsmedelsexporten. Genom fallstudier av Nederländerna, Danmark och Lettland identifierar vi strategier som kan användas för att förbättra konkurrenskraften. Resultaten visar att den svenska livsmedelskedjan har relativt svårt att konkurrera på den europeiska marknaden. Det finns d

This article puts forward the core argument that a pedagogical shift is very much needed if we want to address the challenges and capitalize on the opportunities represented by increasingly diverse educational settings and move towards a more inclusive, equal, and just academia. First, it is suggested that we replace the current pedagogical models in use, namely, the teacher-centered and student-c

Ecogeographical rules, describing common trends in animal form across space and time, have provided key insights into the primary factors driving species diversity on our planet. Among the most well-known ecogeographical rules are Bergmann's rule and Allen's rule, with each correlating ambient temperature to the size and shape of endotherms within a species. In recent years, these two rules have a

Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess if acupuncture reduces the treatment duration of neonatal abstinence syndrome(NAS) in newborn infants, reduces adverse events and reduces length of hospital stay.

Background: Various factors modulate circulating testosterone in men, affecting interpretation of testosterone measurements. Purpose: To clarify factors associated with variations in sex hormone concentrations. Data Sources: Systematic literature searches (to July 2019). Study Selection: Prospective cohort studies of community-dwelling men with total testosterone measured using mass spectrometry.

The COVID-19 pandemic had disastrous effects on health and economic activity worldwide, including in the Euro Area. The application of mandatory lockdowns contributed to a sharp fall in production and a rise in unemployment, inducing an expansionary fiscal and monetary response. Using a uniquely large macro database, this paper examines the effects of the pandemic and the ensuing economic policies

Seismic Structural Health Monitoring (S2HM) provides information about the integrity of civil structures and infrastructure in the aftermath of an earthquake. However, quantifying the benefits of S2HM information is crucial to justify the investment in S2HM systems. The benefit of S2HM can be computed through the Value of Information (VoI) from Bayesian decision theory, which compares the expected

Objective: To determine the influence of serum sodium on physical, psychologic and sexual function. Methods: This is a cross-sectional survey on 3340 community-dwelling men aged 40–79 years from a prospective cohort study in eight European countries, the European Male Ageing Study (EMAS). Participants filled-out the Short Form-36 (SF-36), the Physical Activity Scale for the Elderly (PASE), and the

β-Mannanases hydrolyze β-mannans, important components of plant and microalgae cell walls. Retaining β-mannanases can also catalyze transglycosylation, forming new β-mannosidic bonds that are applicable for synthesis. This study focused on the blue mussel (Mytilus edulis) GH5_10 β-mannanase MeMan5A, which contains two semi-conserved tryptophans (W240 and W281) in the distal subsite +2 of its activ

BACKGROUND: Knowledge about the prevalence of women with breast implants is paramount in calculations of risks and in estimations of effects on screening and breast cancer treatment. Most of the estimations of prevalence made to date are rough and often based on sales data. The main aim of this study was to calculate the prevalence of breast implants in Swedish women. The secondary aim was to inve

Stratigraphic sites in north-west Svalbard record at least six significant glacial advances in the last 200 Ky, and sediments deposited under locally high relative sea level during intervening interstadials or interglacials contain abundant benthic foraminifera. We present a biostratigraphic record from the Kongsfjordhallet site in the Kongsfjorden area that covers five high relative sea-level eve

Kapitalet innehåller en kort introduktion till den amerikanska stadsbyggnadsrörelsen New Urbanism och dess småstadsideal, samt en diskussion kring frågan om det går att bygga städer i förorten. Med utgångspunkt i amerikanska och brittiska exempel diskuteras vad en nybyggd småstad skulle kunna vara och hur möjligheterna att lyckas med att bygga nya städer ser ut. Slutsatsen blir att det är möjligt,

Purpose: The aim of this study was to establish a valid national cohort of patients diagnosed with acromegaly by combining data from the general National Patient Register (NPR) and the disease-specific Swedish Pituitary Register (SPR). Methods: Patients ≥ 18 years of age at diagnosis of acromegaly reported from 1991 to 2018 who were registered in the NPR and/or SPR were included. The diagnosis of

I kapitlet diskuteras sambandet mellan estetiska regler och kvalitet i ett arkitektursammanhang. Utgångspunkt är fallstudier hämtade från den amerikanska stadbyggnadsrörelsen New Urbanism och den teori som jag utvecklade i min avhandling "Seaside, Windsor och Celebration". Viktiga huvudbegrepp är stabil och spontan kvalitet, vilka står för kvalitet som är hög/god tack vare rådande normer, respekti